Atypical hemolytic-uremic syndrome 1

Common Name(s)

Atypical hemolytic-uremic syndrome 1

Atypical hemolytic uremic syndrome 1 (aHUS 1) is a rare genetic disease in which red blood cells are abnormally destroyed, leading to a decreased red blood cell count (anemia) and destruction of the platelets (thrombocytopenia). Platelets are found circulating in the blood and are involved in clot formation to stop bleeding. aHUS 1 is a chronic and often progressive condition. This particular type of aHUS is caused by a mutation or change in the CFHR1, CFHR3, and HF1 genes. These genes make proteins that help regulate the complement system, which is a part of the immune system that helps to get rid of things that may be harmful to the body.

Early symptoms of aHUS 1 include malaise, tiredness, lethargy, and irritability. Later, individuals usually develop swelling, blood in the urine, protein in the urine, and a reduced amount of albumin in the blood. Albumin is a major protein in blood that helps to regulate blood pressure and transport proteins and other substances. The debris from destroyed red blood cells in aHUS 1 can clog or damage the tiny blood vessels in the kidney, which is the organ that filters blood and produces urine. Kidney failure may occur and is a feared complication of this condition.

aHUS 1 is often diagnosed based on family history, genetic testing, and signs of a low red blood cell count (anemia), a low platelet count (thrombocytopenia), and kidney damage. Treatment may include IV fluid and nutrient replacement, blood transfusions, and medication to help maintain blood pressure. If the kidneys stop working, then dialysis may be needed in order to filter the blood. If you or a loved one has been diagnosed with aHUS 1, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atypical hemolytic-uremic syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Atypical hemolytic-uremic syndrome 1" returned 4 free, full-text research articles on human participants. First 3 results:

The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.
 

Author(s): Arnab Bhattacharjee, Stefanie Reuter, Eszter Trojnár, Robert Kolodziejczyk, Harald Seeberger, Satu Hyvärinen, Barbara Uzonyi, Ágnes Szilágyi, Zoltán Prohászka, Adrian Goldman, Mihály Józsi, T Sakari Jokiranta

Journal: J. Biol. Chem.. 2015 Apr;290(15):9500-10.

 

Atypical hemolytic uremic syndrome (aHUS) is characterized by complement attack against host cells due to mutations in complement proteins or autoantibodies against complement factor H (CFH). It is unknown why nearly all patients with autoimmune aHUS lack CFHR1 (CFH-related protein-1). ...

Last Updated: 11 Apr 2015

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Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
 

Author(s): Johannes Hofer, Andreas R Janecke, L B Zimmerhackl, Magdalena Riedl, Alejandra Rosales, Thomas Giner, Gerard Cortina, Carola J Haindl, Barbara Petzelberger, Miriam Pawlik, Verena Jeller, Udo Vester, Bettina Gadner, Michael van Husen, Michael L Moritz, Reinhard Würzner, Therese Jungraithmayr,

Journal: Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15.

 

This study evaluated the relevance of complement factor H (CFH)-related protein (CFHR) 1 deficiency in pediatric patients with atypical hemolytic uremic syndrome (aHUS) by evaluating both the frequency of deletions in CFHR1 and the presence of complement factor H (CFH) antibodies.

Last Updated: 8 Mar 2013

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Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome.
 

Author(s): Anna Foltyn Zadura, Peter F Zipfel, Maria I Bokarewa, Gunnar Sturfelt, Andreas Jönsen, Sara C Nilsson, Andreas Hillarp, Tore Saxne, Leendert A Trouw, Anna M Blom

Journal:

 

Complement activation is involved in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and atypical hemolytic uremic syndrome (aHUS). Autoantibodies to complement inhibitor factor H (FH), particularly in association with deletions of the gene coding for FH-related protein ...

Last Updated: 30 Jul 2014

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Reviews from the PubMed Database

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The terms "Atypical hemolytic-uremic syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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